Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021349C>A , CM000663.2:g.94021349C>A | GRCh38 |
| NC_000001.10:g.94486905C>A , CM000663.1:g.94486905C>A | GRCh37 |
| NC_000001.9:g.94259493C>A | NCBI36 |
| NG_009073.1:g.104801G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4909G>T MANE Select | ENSP00000359245.3:p.Ala1637Ser | |
| ENST00000370225.3:c.4909G>T | ENSP00000359245.3:p.Ala1637Ser | |
| ENST00000460514.1:n.403G>T | ||
| ENST00000470771.1:n.19G>T | ||
| ENST00000536513.5:c.1285G>T | ENSP00000439707.2:p.Ala429Ser | |
| NM_000350.2:c.4909G>T | NP_000341.2:p.Ala1637Ser | |
| NM_000350.3:c.4909G>T MANE Select | NP_000341.2:p.Ala1637Ser |